A database and website for molecular defects of the GH-IGF axis: Www.growthgenetics.com

Hormone Research in Paediatrics

Volumn 80, Issue 6, 2014, Pages 443-448

  Rosenfeld, Ron G ^a   Von Stein, Thorsten ^b  

^a STAT5   (United States)

^b Lapidary Scientific Consulting   (United States)

Author keywords

Database; Genetic variations; GH IGF axis; Molecular defects

Indexed keywords

GROWTH HORMONE; SOMATOMEDIN; GROWTH HORMONE RECEPTOR;

ARTICLE; DATA BASE; ENDOCRINE FUNCTION; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; GH IGF AXIS; GROWTH DISORDER; GROWTH HORMONE DEFICIENCY; HUMAN; PHENOTYPIC VARIATION; PRIORITY JOURNAL; FAMILY HISTORY; GENE; GENETICS; GHR GENE; IGF1 GENE; IGF1R GENE; IGF2 GENE; IGFALS GENE; INFORMATION; REGISTRATION; STAT5B GENE;

ADOLESCENT; CHILD; DATABASES, GENETIC; GROWTH CHARTS; GROWTH DISORDERS; HUMAN GROWTH HORMONE; HUMANS; INTERNET; MUTATION; RECEPTORS, SOMATOTROPIN; SIGNAL TRANSDUCTION; SOMATOMEDINS; USER-COMPUTER INTERFACE;

EID: 84893655016     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000355543     Document Type: Article

References (8)

1. David A, Hwa V, Metherell LA, Netchine I, Camacho-Hübner C, Clark AJ, Rosenfeld RG, Savage MO: Evidence for a continuum of genetic, phenotypic and biochemical abnormalities in children with growth hormone insensitivity. Endocr Rev 2011; 32: 472-497.
2. Walenkamp MJ, Losekoot M, Wit JM: Molecular IGF-1 and IGF-1 receptor defects: From genetics to clinical management. Endocr Dev 2013; 24: 128-137.
3. Alatzoglou KS, Dattani MT: Genetic causes and treatment of isolated growth hormone deficiency-An update. Nat Rev Endocrinol 2010; 6: 562-576.
4. Kiess W, Kratzsch J, Kruis T, Müller E, Wallborn T, Odeh R, Schlicke M, Klammt J, Pfäffle R: Genetics of human stature: Insight from single gene disorders. Horm Res Paediatr 2011; 76(suppl 3):11-13.
5. Fofanova-Gambetti O, Hwa V, Wit JM, Domene H, Argente J, Bang P, Högler W, Kirsch S, Pihoker C, Chiu HK, Cohen L, Jacobsen C, Jasper HG, Haeusler H, Campos-Barros A, Gallego-Gomez E, Gracia-Bouthelier R, van Duyvenvoorde HA, Pozo J, Rosenfeld RG: Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: Results from an international ALS consortium. J Clin Endocrinol Metab 2010; 95: 4184-4191.
6. Laron Z, Pertzelan A, Mannheimer S: Genetic, pituitary dwarfism with high serum concentration of growth hormone-A new inborn error of metabolism? Isr J Med Sci 1966; 2: 152-155.
7. Godowski PJ, Leung DW, Meacham LR, Galgani JP, Hellmiss R, Kerer R, Rotwein PS, Parks JS, Laron Z, Wood WI: Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-Type dwarfism. Proc Natl Acad Sci USA 1989; 86: 8083-8087.
8. Amselem, S, Duquesnoy P, Attree O, Novelli G, Bousnina S, Postel-Vinay MC, Goossens M: Laron dwarfism and mutations of the growth hormone-receptor gene. N Engl J Med 1989; 321: 989-995.